HSP and deafness

HSP and deafness

Objective: To identify the underlying genetic cause in 2 sisters affected with progressive lower extremity spasticity, neuropathy, and early-onset deafness. Methods: Whole-exome sequencing was performed, and segregation testing of variants was investigated using targeted Sanger sequencing. An inherited paternal mosaic mutation was further evaluated through quantitative analysis of the ratio of ...

Hsp 104 , Hsp 70 , and Hsp 40 : A Novel Chaperone System that Rescues Previously Aggregated

are involved in protein turnover. Neither ClpA nor ClpX Hsp104 is a stress tolerance factor that promotes the has intrinsic proteolytic activity. Rather, both proteins reactivation of heat-damaged proteins in yeast by an confer ATP-dependent turnover of their substrates unknown mechanism. Herein, we demonstrate that through a physical association with an unrelated oligoHsp104 functions in this ...

Hsp - 90 and

Background: Hsp-90 from the free-living nematode Caenorhabditis elegans is unique in that it fails to bind to the specific Hsp-90 inhibitor, geldanamycin (GA). Here we surveyed 24 different freeliving or parasitic nematodes with the aim of determining whether C. elegans Hsp-90 was the exception or the norm amongst the nematodes. We combined these data with codon evolution models in an attempt t...

Adams Oliver Syndrome and Congenital Deafness

Admas-Oliver syndrome is a rare autosomal dominant disease of congenital development defects association with aplasia cutis. All of 81 reported cases were of 32 group families. These two cases had congenital scalp cutis aplasia with developmental defect and hypoplasia of left foot digits in case 1.Congenital deaf-mute in both can added to the past known findings in this syndrome. Thoracic defor...

The human HSP 70 / HSP 40 chaperone family